Human Genetics

, Volume 121, Issue 3–4, pp 501–509 | Cite as

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

  • Vera M. Kalscheuer
  • David FitzPatrick
  • Niels Tommerup
  • Merete Bugge
  • Erik Niebuhr
  • Luitgard M. Neumann
  • Andreas Tzschach
  • Sarah A. Shoichet
  • Corinna Menzel
  • Fikret Erdogan
  • Ger Arkesteijn
  • Hans-Hilger Ropers
  • Reinhard Ullmann
Original Investigation

Abstract

We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549–554, 1986; Sultana et al. in Genomics 80:129–134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Vera M. Kalscheuer
    • 1
  • David FitzPatrick
    • 2
  • Niels Tommerup
    • 3
    • 4
  • Merete Bugge
    • 3
  • Erik Niebuhr
    • 4
  • Luitgard M. Neumann
    • 5
  • Andreas Tzschach
    • 1
  • Sarah A. Shoichet
    • 1
  • Corinna Menzel
    • 1
  • Fikret Erdogan
    • 1
  • Ger Arkesteijn
    • 6
  • Hans-Hilger Ropers
    • 1
  • Reinhard Ullmann
    • 1
  1. 1.Max-Planck-Institute for Molecular GeneticsBerlinGermany
  2. 2.Clinical Genetics Department and MRC Human Genetics Unit, MRCWestern General HospitalEdinburghUK
  3. 3.Wilhelm Johannsen Centre for Functional Genome ResearchThe Panum InstituteCopenhagenDenmark
  4. 4.Department of Medical Biochemistry and GeneticsThe Panum InstituteCopenhagenDenmark
  5. 5.Institute for Human GeneticsCharité Campus Virchow-KlinikumBerlinGermany
  6. 6.Department of Infectious Diseases and Immunology, Faculty of Veterinary MedicineUtrecht UniversityUtrechtThe Netherlands

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